Linked Data
dbSNP Id:
rs757339203
gnomAD v2:
11-121475726-C-T
gnomAD v3:
11-121605017-C-T
gnomAD v4:
11-121605017-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121605017C>T , CM000673.2:g.121605017C>T | GRCh38 |
| NC_000011.9:g.121475726C>T , CM000673.1:g.121475726C>T | GRCh37 |
| NC_000011.8:g.120980936C>T | NCBI36 |
| NG_023313.1:g.157766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.4652-96C>T MANE Select | ENSP00000260197.6:n.4652-96C>T | |
| ENST00000260197.11:c.4652-96C>T | ENSP00000260197.6:n.4652-96C>T | |
| ENST00000525532.5:c.1484-96C>T | ENSP00000434634.1:n.1484-96C>T | |
| ENST00000527934.1:c.497-96C>T | ENSP00000435405.1:n.497-96C>T | |
| ENST00000532694.5:c.1190-96C>T | ENSP00000432131.1:n.1190-96C>T | |
| ENST00000534286.5:c.1382-96C>T | ENSP00000436447.1:n.1382-96C>T | |
| NM_003105.5:c.4652-96C>T | NP_003096.1:n.4652-96C>T | |
| XM_011542963.1:c.4538-96C>T | XP_011541265.1:n.4538-96C>T | |
| XM_011542964.1:c.4652-96C>T | XP_011541266.1:n.4652-96C>T | |
| XM_011542965.1:c.3113-96C>T | XP_011541267.1:n.3113-96C>T | |
| XM_011542966.1:c.2012-96C>T | XP_011541268.1:n.2012-96C>T | |
| XM_011542967.1:c.1484-96C>T | XP_011541269.1:n.1484-96C>T | |
| XM_011542963.3:c.4538-96C>T | XP_011541265.1:n.4538-96C>T | |
| XM_011542965.3:c.3113-96C>T | XP_011541267.1:n.3113-96C>T | |
| XM_011542967.3:c.1484-96C>T | XP_011541269.1:n.1484-96C>T | |
| XM_017018169.2:c.4340-96C>T | XP_016873658.1:n.4340-96C>T | |
| XM_017018170.2:c.4127-96C>T | XP_016873659.1:n.4127-96C>T | |
| XM_017018171.1:c.4652-96C>T | XP_016873660.1:n.4652-96C>T | |
| XM_017018172.2:c.2012-96C>T | XP_016873661.1:n.2012-96C>T | |
| NM_003105.6:c.4652-96C>T MANE Select | NP_003096.2:n.4652-96C>T |